What does being a clinical geneticist mean?
Clinical genetics is a relative small medical speciality concentrating on people with rare genetic diseases and their families. Sometimes we see our role not so much in the exact diagnosis but in providing information around prognosis and implications. We manage the rare genetic conditions that no-one else can or has the speciality to manage where multifaceted management and coordination is required – a genetic GP. There is also the role of the laboratory liaison; results sometimes come to us to interpret and to see the patient.

How is your time split?
My time is split 50:50 in the clinic (at the Addenbrooke’s Treatment Centre) and in the laboratory at the Cambridge Institute for Medical Research (CIMR). It can be hard to partition your life; without the physical distinction between clinic and laboratory, clinical work would always take priority. Most clinical geneticists are NHS-employed, so they do only clinical work; a small proportion are 50:50 and some do exclusively research, but then patient contact is lost. Training is now 3½ years (following ST2) after which you are a general clinical geneticist who can then subspecialise. In the past, most people – like myself - would be qualified consultants before they decided to do clinical genetics and so interested in a specific part of clinical genetics. Having said that, it is as varied as one can get – you can see anything in clinic.

Would you say there is an increase in demand?
It depends. Genetic diseases with clear cut testing protocols and a good understanding of inheritance have been pushed back to their specialities for management. For example, Cystic Fibrosis and Williams Syndrome can be diagnosed and managed by the respiratory and paediatric teams respectively. More complex conditions, often one-off cases, will come to us for diagnosis or if that is not possible, at least information on the impact to the family. Some areas we’ve shed, other areas we’ve kept, but I think it will keep changing, especially with the multiple genetic assessments becoming available.

What about personalised genomics?
Personalised genomics, the analysis of an individual’s genome by a private company in a broad brush manner, without a hypothesis of a genetic disease, is poised to become a real problem. I could spend my entire time - there has been just one referral so far - seeing people who had personal genomic tests, interpreting all the DNA changes, chasing through families to see who else is a carrier, spending our laboratory’s whole budget on reconfirming each DNA results. And for what? Many of the changes found are for susceptibility and don’t cause a predictable phenotype. At the moment, we suggest such cases are seen privately.

Nexgen sequencing:
We are looking at how to introduce next generation techniques such as sequencing someone’s exome (the coding section of the genome) into testing procedures and how to do that without uncovering unwelcome information (i.e. finding unexpectedly that a person carries a gene mutation that will definitely mean they develop early dementia). For this type of analysis, our role will very much be in interpreting the results and feeding back to the clinician. There are a number of issues that need to be addressed before this is done routinely, such as masking results that were not consented for and storing the data.

Why did you choose the speciality and what is the worst and best aspect for you?
I am a paediatrician and during my training carried out research into ataxia telangiectasia. I just got side-tracked to the causes of the condition rather than its management. So I am a paediatrician but I see children mostly with genetic disorder. The best is that you do something useful. The worst, I guess, would be those families that you cannot offer a diagnosis or that you have to give a dreadful diagnosis to. Also family impact is different in clinical genetics compared with other specialities. Someone that chooses the speciality needs to be intellectually-stimulated by the science and has got to like people because our consultations are long and elaborate.

What does your research group do here? Is there flexibility?
Every research problem we have ever done has started with a family that I have seen in clinic. The main thing we do is finding gene mutations that cause a specific phenotype. Our work covers three main areas: prenatal brain growth and children with disorders of this, inability to sense pain, and we can also work with any condition that walks through the door and we think is interesting. A family last year had three men: two brothers and an uncle that were infertile, and chromosomal and DNA analysis showed that in fact there was complete female to male conversion in the family. So there is tremendous flexibility in the research, and it’s all from patients and then back to patients with the results – real translational research!